Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Petek, E.
Application of Genomic Strategies to Study the Human Biology of Rare and Complex Genetic Diseases
[ Dissertation ] Graz Medical University; 2004.
- Autor*innen der Med Uni Graz:
- Petek Erwin
- Betreuer*innen:
- Kroisel Peter
- Wagner Klaus
- Altmetrics:
- Abstract:
- Advances in the Human Genome Project provide the foundation for a new way of studying health and disease. The recent release of the first draft of the human genome provides an unprecedented opportunity to integrate all human genes and their functions in a complete positional context. Translocations and gross deletions are important causes of inherited disease. Many people are born with a set of chromosomes that is rearranged in some way. The disruption and/or loss of genes or regulatory sequences in these chromosome rearrangements causes disease in many cases. We performed a systematic clinical, cytogenetic, and molecular characterisation of de novo chromosome rearrangements that are associated with rare and/or complex human diseases. In order to narrow down the breakpoints, fully integrated BAC/PAC maps of the breakpoint region have been accessed and hybridised to the respective translocation/deletion chromosomes. Using the genomic sequence, we have constructed a transcription map of the genomic interval of interest. A combination of DNA sequence analysis, RT-PCR and RACE was used to obtain the full-length cDNA for positional and functional candidates for the features seen in our patients. In recent years, theses cytogenetic and molecular genetic tools have resulted in the identification of the underlying genetic defects in a large number of disorders. The ultimate goal is to use this information to develop new ways to treat, cure, or even prevent the thousands of diseases that afflict humankind.